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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTB

Variant:p.E226V

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ACTB

NM_001101.5:p.E226V

hg38:chr7:5528406 T>A

Associated Papers

Dominant-negative effects of Weaver syndrome-associated EZH2 variants.

Deevy O et al.

Genes & Development, 2025

40846643 (PubMed )

Supplement: Supplemental_Data.docx

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